Author: Hannah

As a linguist I struggle with genetics, I am, however, as an evolution geek, very interested in it. This creates all sorts of problems and high levels of anxiety when talking about FOXP2 and other genes, due to fear that I misunderstand the very highly complex interactions which exist between genes, environmental effects or cascading effects which cannot be summed up in a simple “x gene causes x trait in humans” paradigm.

Which is about busting the widespread belief (for idiots like me) that individual genes determine traits such as intelligence, optimism, obesity and dyslexia. I find it interesting that this is presented in the blogs section and not as a mainstream article.

She points out on Twitter this morning that the Jedward pic was not her idea. (I add this point because I found it weirdly comforting)

And it’s also lovely to see that at the bottom of the pile of comments is a well articulated reply by Dorothy to individual users.

I love blogging, because there exists the ability for individuals to reply to claims made about them, primary sources (papers &c.) are cited and checkable and there’s none of the unnecessary dumbing down found in mainstream media. Here’s an article by Ben Goldacre expanding on this subject (which incidentally includes work by Dorothy Bishop).

Here is a parable about how, as a blogger, my claims were checked, discussed and ultimately concluded to be bollocks. (I don’t have a contrastive parable about what would have happened if I’d instead made these claims in the mainstream media but many stories of this nature can be found here.)

the CNTNAP2 gene has been found in independent samples to be associated with both ASD and SLI. This is interesting because it could show that gene mutations which cause improved social abilities could have also caused changes in our linguistic ability on a syntactic or phonological level.

This blog post cited the work of Dorothy Bishop quite heavily and she took the time out to come and tell me problems with it. Here’s what she said:

As you anticipated, I think there are some problems with the implications you draw from the work. There are two issues. The first is that the variants of CNTNAP2 associated with language level are not mutations. You would usually only use that term in the case where most people had the same DNA sequence in a gene, but rare individuals had a different DNA sequence. FOXP2 is a case in point: there is a family, the KE family, who have a mutation affecting around half the family members, where the DNA sequence is changed. For most people in the general population, and for most people with SLI, the FOXP2 sequence is the same.

The CNTNAP gene is very different. The DNA sequence has different versions in different people, and one version, which is pretty common in the general population, is associated with a small decrease in language abilities, but most people with this version would not be recognised as having any language impairment. Most researchers now think that SLI is probably the result of the combined effect of many genes, each of which may nudge language ability up or down a bit. In this regard, language ability is rather like height: there are rare mutations that may make a person drastically tall or short, but most variation in height arises from combined effect of many small influences of genes that show DNA variation in the normal population.

The second issue concerns the evidence for CNTNAP2 being involved in both SLI and autism. Many people in the field do think this means that the same gene that can cause SLI can also cause autism, and that the only difference is that people with autism have additional difficulties going beyond language – what I have termed the ‘autism as SLI plus’ model. I supported that model in the past, but there are some facts that are hard to square with it. First, although many people with autism have structural language problems (affecting grammar and phonology) similar to those in SLI, not all of them do. So people with high-functioning autism or Asperger syndrome may have well-developed skills in syntax and phonology, while still having difficulties with pragmatics. The second point, which is a big problem for a simple genetic account, is that whereas the relatives of people with SLI often have some difficulties with structural language, we don’t usually see that in relatives of people with autism, even if the person with autism has poor language skills. It was this latter point that I was particularly keen to try and explain in my paper. The bottom line is that to explain the pattern of data we need to think in terms of interactions between genes (technically known as epistasis). So there are genetic variants that increase risk of autism, and others that increase risk of SLI. Most of these will have an individually small effect. However, if you have a risk variant for a gene influencing SLI (such as CNTNAP2) in the context of having a genetic risk for autism, the effect on language will be much worse. According to this model CNTNAP2 doesn’t affect both social cognition and language; rather it affects language, but that effect will get multiplied if the person also has risk factors for autism.

Which is SOOOO interesting.

I’d really like to thank her for replying, it’s really lovely to know that high-flying academics are willing to help out when a sincere blogger tries to understand something and falls on their arse.

My last post speculated about what some conditions which manifest impaired theory of mind could tell us about the evolution of ToM. Of these conditions autism was one which could be the most informative when it comes to looking at the genetics of how ToM evolved, in this post I will look at what autism could tell us, not only about theory of mind, but also about other aspects of the language faculty.

Dorothy Bishop has recently written a paper exploring the above average co-occurrence of Specific Language Impariment (SLI) and Autistic Spectrum Disorders (ASD).

SLI is a condition where a child fails to develop spoken language on the normal schedule, for no observable or obvious reason (Bishop and Norbury 2008). Whilst ASD and SLI are regarded as distinct conditions, these disorders co-occur at above chance levels.

Bishop (2010) explores why this might be. Bishop begins her paper by painting a textbook example of a child with SLI. This example is of a child with normal social interaction and nonverbal communication, but with specific difficulties in mastering structural aspects of language, especially syntax and phonological skills. So this typical picture is not one of an autistic child in that one of the defining features of autism is a limited capacity for normal social interaction and a child is much more likely to be deficient in pragmatic skills than syntactic or phonological skills.

Bishop states that despite the fact that according to conventional diagnostic frameworks, SLI andASD are mutually exclusive diagnoses, similarities exist between the two conditions and these include:

They are both highly heritable

Identical, monozygotic twins are significantly more concordant than fraternal, dizygotic twins for autism and SLI

In both conditions rates of impairment in first degree relatives are higher than in the general population

First degree relatives of affected individuals of both conditions often manifest sub-threshold symptoms

These conditions correspond to points on a continuum of impairment, rather than all-or-none diseases

So any model of causation for either condition must take into account the following considerations:

Above chance levels of comorbidity between SLI and ASD

Rates of language impairment in relatives of probands with SLI and ASD

Now the article goes on to explore etiological models which explain these considerations with varying degrees of success. I’m not going to pretend to understand these models as I have only ever been formally taught in linguistics and so I’m a bit stumped by genetic psychology. If you’re much smarter than me you can read the article yourself here:

So what I got from this article was that the genetic factors involved in autism can not only cause the characteristics typical of a person with autism (pragmatic impairments) but also other language impairments which are typical of a person with a Specific Language Impairment. Specifically the CNTNAP2 gene has been found in independent samples to be associated with both ASD and SLI. This is interesting because it could show that gene mutations which cause improved social abilities could have also caused changes in our linguistic ability on a syntactic or phonological level.

Disclaimer: Sorry if I’ve made too many assumptions in the conclusion I’ve just drawn. As I said above I know next to nothing about genetic psychology but I just felt this research would have interesting consequences in the field of language evolution. I’d love to hear the thoughts of people who know better than I do.

Theory of Mind is the ability to infer other persons’ mental states and emotions. It is thought to have evolved as part of the human’s social brain and probably emerged as an adaptive response to increasingly complex primate social interaction.

This sophisticated ‘metacognitive’ ability comes at an evolutionary cost, reflected in a broad spectrum of psychopathological conditions. Extensive research into autistic spectrum disorders has revealed that theory of mind may be selectively impaired, leaving other cognitive faculties intact. Recent studies have shown that observed deficits in theory of mind task performance are part of a broad range of symptoms in schizophrenia, bipolar affective disorder, some forms of dementia, ‘psychopathy’ and in other psychiatric disorders.

Now it’s fairly uncontroversial to assert that without the ability of theory of mind humans would have never evolved language (Sperber and Wilson, 2002). This is due to the fact that if one can’t attribute another to have a ‘mind’ like ones own, or assume that other minds hold different information to ones own then one would see little point in trying to share information. (I’m sorry for the amount of ‘ones’ in that sentence).

Sooo, it does not seem presumptuous to assume that people interested in the evolution of language should be interested in theory of mind, in fact for many years evolutionary linguists, psychologists and biologists have been looking into this, but mostly through observing the behaviour of animals, and especially primates to see if they display theory of mind capabilities. A good summary of this work can be found here, and a lot of relevant studies can be found on this blog in the What makes humans unique? posts by Michael. I’m not going to look at the animal data in this post, but instead what the deficiencies in some human conditions can tell us about the evolution of theory of mind. That is, what can autism, schizophrenia, bipolar affective disorder, dementia, ‘psychopathy’ and other psychiatric disorders tell us?

The Boston Globe reported today that Marc Hauser is on leave due to scientific misconduct . The Great Beyond summarises the article as follows:

The trouble centers on a 2002 paper published in the journal Cognition (subscription required). Hauser was the first author on the paper, which found that cotton-top tamarins are able to learn patterns – previously thought to be an important step in language acquisition. The paper has been retracted, for reasons which are reportedly unclear even to the journal’s editor, Gerry Altmann.

Two other papers, a 2007 article in Proceedings of the Royal Society B and a 2007 Science paper, were also flagged for investigation. A correction has been published on the first, and Science is now looking into concerns about the second. And the Globe article highlights other controversies, including a 2001 paper in the American Journal of Primatology, which has not been retracted although Hauser himself later said he was unable to replicate the results. Findings in a 1995 PNAS paper were also questioned by an outside researcher, Gordon Gallup of the State University of New York at Albany, who reviewed the original data and said he found “not a thread of compelling evidence” to support the paper’s conclusions.

When talking about language evolution there’s always a resistance from people exclaiming; ‘but how do we know?’, ‘surely all of this is conjecture!’ and, because of this, ‘what’s the point?’

Thomas Scott-Phillips and Simon Kirby have written a new article (in press) in ‘Trends in Cognitive Science’ which addresses some of the techniques currently used to address language evolution using experiments in the laboratory.

The Problem of language evolution

The problem of language evolution is one which encompasses not only the need to explain biologically how language came about but also how language came to be how it is today through processes of cultural evolution. Because of this potential ambiguity arises when using the term ‘language evolution’. To sort this ambiguity the authors put forward the following:

Language evolution researchers are interested in the processes that led to a qualitative change from a non-linguistic state to a linguistic one. In other words, language evolution is concerned with the emergence of language

New hypothesis of language evolution. Language Evolved due to an “animal connection” according to Pat Shipman:

Next, the need to communicate that knowledge about the behavior of prey animals and other predators drove the development of symbols and language around 200,000 years ago, Shipman suggests.

For evidence, Shipman pointed to the early symbolic representations of prehistoric cave paintings and other artwork that often feature animals in a good amount of detail. By contrast, she added that crucial survival information about making fires and shelters or finding edible plants and water sources was lacking.

“All these things that ought to be important daily information are not there or are there in a really cursory, minority role,” Shipman noted. “What that conversation is about are animals.”

Of course, much evidence is missing, because “words don’t fossilize,” Shipman said. She added that language may have arisen many times independently and died out before large enough groups of people could keep it alive.

So I wrote a post a couple of weeks ago on my Hungarian friend’s blog in which I wrote about, amongst other things, why some linguists have physics envy, but I just read a new scientist article in which it seems physicists can have linguistics envy too!

Murray Gell-Mann, a nobel prize winning physicist (who discovered quarks), has taken it upon himself to try to work out the origins of human language:

Another pet project is an attempt to trace the majority of human languages back to a common root. Since the 19th century, linguists have been comparing languages to infer their common ancestry, but in most cases, Gell-Mann says, this kind of analysis loses the trail 6000 or 7000 years back. He says most linguists insist it is impossible to follow the trail any further into the past and – this is what truly rankles with him – “absurdly, they don’t even want to try”.

Gell-Mann heads SFI’s Evolution of Human Languages (EHL) programme. The EHL linguists say they can go even further back by classifying language families into superfamilies and even into a super-superfamily. “What we’ve found,” Gell-Mann explains, “is tentative evidence for a situation in which a huge fraction of all human languages are descended from one spoken 20,000 years ago, towards the end of the last ice age.” The team does not claim to account for all languages, though, and remains agnostic about whether they can eventually do so. “All of this just comes from following the data,” he says.

I love that attempting to trace the majority of human languages back to a common root can be described as a ‘pet project’.

Some evolutionary thinkers have posited that schizophrenia is a recent disorder which is a modern response to the stresses of the industrial and technological age. Burns argues against this and claims that there is evidence of schizophrenia from early human history.

So, how and why did schizophrenia evolve when it has such a maladaptive nature? It’s certainly not being selected out because the phenotype still persists with a similar rate of incidence across the human race.

The Adaptionist Programme has a solution for this problem of mental disorders in that it views them as behavioural traits which evolved due to an advantage for the the individual in the ‘ancestral environment’, however, now, in a world which has changed and become psychologically stressful, a mismatch is created between the evolved trait and the modern environment.

The persistence of the phenotype can also be explained by taking into account the fact that psychotic illness has a continuum on which schizophrenia is a severe end of the spectrum, because of this other phenotypes on the genetic spectrum could harbour particularly adaptive traits. Genetically related but unaffected individuals who share some of the milder features of the illness may possess some kind of evolutionary advantage and hence the phenotype would linger.

The hypotheses above are plausible by Jonathan Burns claims he has a better solution:

Our hominid ancestors evolved a sophisticated neural network supporting social cognition and adaptive interpersonal behaviour (in other words the social brain). This has been identified, using functional imaging, to be comprised in the fronto-temporal and fronto-parietal cortical networks. Psychosis (and schizophrenia in particular) are characterised by functional and structural deficits in these areas and hence the term ‘social brain disorders’ are fitting.

Schizophrenics display abnormalities in a wide range of social cognition tasks such as emotion recognition, theory of mind and affective responsiveness and as a result individuals with schizophrenia find themselves disadvantaged in the social arena and vulnerable to the stresses of their complex social environments.

So, since there is such evidence to support that the areas which comprise our ‘social brains’ are the same regions which contribute to the disorder of schizophrenia when functional and structural deficits are present it becomes clear that schizophrenia exists as a consequence to the complex social brain.

This is a desirable hypothesis due to the fact that it does not rely on a Cartesian model of an isolated ethereal mind separated from body and environment, and instead concentrates on a physically and socially integrated construct of mind, embodied in the living world.

Interesting.

I’d just like to add a small disclaimer which says that I’m not an expert in schizophrenia or pretty much anything I’m writing about here (I haven’t even finished the book) so sorry if I’ve got anything hideously wrong. Please tell me. I’ll revisit this with extra thoughts on the subject once I have finished the book.

In other news and on the subject of evolutionary psychology here’s a really fun and ridiculously geeky thing I found:

Hello! This is my first post on the blog and whilst I didn’t want it to be an angry rant after I found this youtube video there seemed little could have been done to avoid it.

This is a video by a creationist named “ppsimmons” who writes on the front page of his youtube channel that he “apologizes for not knowing enough to scientifically refute the evidence for creation nor for being clever enough to “scientifically” support the theory of evolution.” And yet he feels to be enough of an authority to make videos refuting evolution using ‘science’.

I know I shouldn’t let this annoy me as much as it obviously has, I know that there will always be creationists out there and I know that these creationists will never listen to anything I have to say. However, in this case, I’ve decided to respond mostly to set straight the interpretation of Robert Berwick’s words used in this video.